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Abdominal pain in a 5-year-old boy
Rebecca Thompson1, Vijayalakshmi Kothandaraman
1James Paget University Hospitals NHS Foundation Trust, Gorleston-on-Sea, Great Yarmouth, Norfolk, UK. rebecca-thompson@hotmail.co.uk
BMJ Case Reports
|June 14, 2012
Summary
A child with a family history of hereditary pancreatitis presented with acute symptoms. Diagnosis was confirmed by symptoms and elevated amylase, pending genetic testing for hereditary pancreatitis.
Area of Science:
- Pediatric Gastroenterology
- Medical Genetics
Background:
- Hereditary pancreatitis is a rare genetic disorder.
- Early diagnosis and management are crucial for patient outcomes.
Observation:
- A 5-year-old male experienced acute vomiting, epigastric pain, and diarrhea.
- He had a 2-year history of intermittent abdominal pain and vomiting.
- A strong family history of chronic hereditary pancreatitis was noted.
Findings:
- Elevated serum amylase (2320 IU/l) and clinical presentation suggested pancreatitis.
- Abdominal ultrasound showed no abnormalities.
- Diagnosis of hereditary pancreatitis was established based on clinical history, symptoms, and elevated amylase, pending molecular testing.
Implications:
- This case highlights the importance of considering hereditary pancreatitis in children with recurrent abdominal pain and a family history.
- Molecular testing is essential for confirming the genetic basis and enabling genetic counseling.
- Prompt symptomatic management is key for acute episodes.
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